Varaico: Literature-Extracted Genetic Variants

Gene:SHMT1
Variant:p.P134L

SHMT1

384 papers

RefSeq Summary

This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and ...

Pfam Domains

SHMTaa 26–425UCSCSerine hydroxymethyltransferase

Gene Aliases

HGNC Name

serine hydroxymethyltransferase 1

HGNC Alias Symbols

cSHMT; MGC15229; MGC24556

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004169.5
p.P134L
c.401C>T
Surrounding Variants
1 paper
NM_004169.5
p.G136R
c.406G>A
1 paper
NM_004169.5
p.G140R
c.418G>C
1 paper
NM_004169.5
p.A126T
c.376G>A
2 papers
NM_004169.5
p.P122T
c.364C>A
1 paper
NM_004169.5
p.S121A
c.361T>G
1 paper
NM_004169.5
p.L149_T150delFs
c.445_448del4
1 paper
NM_004169.5
p.T155R
c.464C>G
1 paper
NM_004169.5
p.I160I
c.480C>T
1 paper
NM_004169.5
p.F167L
c.501T>G
1 paper
NM_004169.5
p.G112fs
c.334_335fs
1 paper
NM_004169.5
p.R99*
c.295C>T
1 paper
NM_004169.5
p.E91K
c.271G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."